ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1732-?_*193dup733

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232856 SCV000284030 uncertain significance Lynch syndrome 2016-11-29 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 16-19 of the MLH1 gene. The 5' boundary is likely confined to intron 15. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. To our knowledge, this variant has not been reported in the literature in individuals with an MLH1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated exons is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on MLH1 protein function has not been established. Therefore, it has been classified as a Variant of Unknown Significance.

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